Severe recurrent proximal muscle weakness without neuroleptic malignant syndrome secondary to antidopaminergic medication has rarely been reported. We report a 29-year-old man with history of obsessive compulsive disorder and Tourette syndrome who presented with 2 months of worsening dyspnea 3 weeks after starting ziprasidone 40 mg daily that required mechanical ventilation. A year before, after an increased risperidone dose from 0.5 to 1 mg daily, he had developed proximal muscle weakness that spontaneously improved 2 months after discontinuation of risperidone...

Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular condition caused by mutations in the dystrophin gene leading to skeletal muscle weakness and dilated cardiomyopathy. The prevalence of DMD-related cardiomyopathy increases with age and is almost universal by the third decade of life. Myocardial fibrosis and progressive left ventricular dysfunction lead to the development of heart failure and premature death. With modern advances in medical and surgical management for patients with DMD increasing their life expectancy, cardiac dysfunction represents an increasing cause of morbidity and mortality in these patients...

This update begins with myasthenia gravis and the roles of anti-agrin and cortactin antibodies. Regarding diagnosis, a report on repeated ice pack testing is highlighted as are several reports on the close correlation of electrodiagnostic testing with clinical features and the response to treatment. The incidence of head drop and associated clinical and ventilatory features are gleaned from a retrospective study. We also discuss a study that assessed the predominantly symmetric and conjugate ocular findings in MuSK-myasthenia gravis...

OBJECTIVES: To estimate the satisfactory response rate (SR%) with achieving maintenance, low-dose prednisone in acetylcholine receptor antibody-positive generalized myasthenia gravis. METHODS: In this retrospective study, we estimate the SR% as defined by (remission/minimal manifestations status for at least 6 months using 7.5 mg or less of prednisone daily, for maintenance treatment at 2, 4, and 6 years after symptoms onset) for patients who were not taking steroid-sparing immunosuppressant (SSI) as a primary outcome and for patients taking an SSI as a secondary outcome...

Amyotrophic lateral sclerosis is a neurodegenerative disorder, which is characterized by progressive upper and lower motor neuron signs and symptoms, resulting in progressive muscle weakness. There are very rare reports of magnetic resonance imaging (MRI) abnormalities within the nerve roots or plexus reported in amyotrophic lateral sclerosis. Here, we report a patient who presented with progressive left arm weakness and was found to have bilateral MRI plexus abnormalities. This report illustrates that MRI plexus abnormalities can be seen in amyotrophic lateral sclerosis, possibly before symptoms, and may have clinical value in the diagnostic process...

OBJECTIVES: To describe the variability of fibroblast growth factor receptor 3 (FGFR3) antibody titers in a small series of patients. METHODS: We performed a retrospective review of patients with neuropathy and positive FGFR3 antibodies. RESULTS: We report 7 patients (3 women) with an age range 44-81 years. Symptoms were acute onset in 3 and subacute onset in 4 patients. Five had neuropathic pain. Examination revealed normal large fiber function to mild/moderate predominantly sensory neuropathy and ataxia in one patient...

Immunomodulating drugs are widely used in autoimmune, transplant, and cancer patients. However, these drugs are associated with various autoimmune neuromuscular diseases such as demyelinating polyneuropathy, myasthenia gravis, and myositis. Early recognition of these complications and immediately terminating these drugs are very essential since some are life-threatening conditions. This review provides a general overview of drug-induced autoimmunity and autoimmune neuromuscular diseases associated with tumor necrosis factor alpha (TNF-α) antagonists, immune checkpoint inhibitors, and interferon (IFN) type 1 (IFN-β and IFN-α)...

OBJECTIVES: To investigate the mutational spectrum and genotype-phenotype correlation in Indian patients with congenital myasthenic syndrome (CMS), using next-generation sequencing of 5 genes. METHODS: CHRNE, COLQ, DOK7, RAPSN, and GFPT1 were sequenced in 25 affected patients. RESULTS: We found clinically significant variants in 18 patients, of which variants in CHRNE were the most common, and 9 were novel. A common pathogenic COLQ variant was also detected in 4 patients with isolated limb-girdle congenital myasthenia...

OBJECTIVES: To compare skin biopsy sensitivity for diagnosing small fiber sensory neuropathy in Chinese American and non-Chinese American patients. METHODS: We screened our skin biopsy database and performed chart review to identify Chinese and non-Chinese American patients with a high clinical suspicion for a distal small fiber sensory neuropathy, and compared the skin biopsy sensitivity. RESULTS: Twenty-three Chinese American and 32 non-Chinese American patients with the presence of distal small fiber sensory symptoms and signs were studied...

We report a 49-year-old man who presented with a history of asymmetric weakness. His neurological examination and electromyogram testing suggested the presence of a myopathy. A muscle biopsy confirmed the presence of a myopathy with several lobulated, whorled and ring fibers, and it showed no evidence of inflammation. Genetic testing of more than 50 genes known to cause myopathy was performed and demonstrates the presence of the common founder mutation in ANO5 gene c.191dupA, which he inherited from his unaffected father...

Several variants of Guillain-Barré syndrome have been described. The Fisher syndrome (FS) presents with ataxia, areflexia, and ophthalmoparesis. The pharyngeal-cervical-brachial (PCB) variant presents with bulbar weakness, along with arm and neck weakness. The 2 variant syndromes can overlap. Both the isolated and overlap syndromes respond to immunomodulatory treatment, thus are important to recognize clinically. Ganglioside antibodies are detectable in the variant syndromes and may aid in their diagnosis...

This update covers the results of a randomized, placebo-controlled study that provides evidence that lamotrigine is effective in treating nondystrophic myotonias. Next, an overview of adverse effects of immune checkpoint inhibitors is provided, and the association of autoimmune myopathy and these monoclonal antibody therapies is discussed in light of recent reports. Last, the utility of electrodiagnostic testing in patients with intensive care unit weakness is addressed with emphasis on the high sensitivity and specificity of prolonged compound muscle action potential amplitudes in diagnosing critical illness myopathy...